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SLC45A1 solute carrier family 45 member 1 [ Homo sapiens (human) ]

Gene ID: 50651, updated on 22-Sep-2022

Summary

Official Symbol
SLC45A1provided by HGNC
Official Full Name
solute carrier family 45 member 1provided by HGNC
Primary source
HGNC:HGNC:17939
See related
Ensembl:ENSG00000162426 MIM:605763; AllianceGenome:HGNC:17939
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DNB5; IDDNPF; PAST-A
Summary
This gene was isolated initially from a region on chromosome 1p that is frequently deleted in human neuroblastoma, although no causal relationship has since been demonstrated. The encoded protein belongs to the glycoside-pentoside-hexuronide cation symporter transporter family and may play a role in glucose uptake. [provided by RefSeq, Mar 2014]
Expression
Broad expression in brain (RPKM 4.3), endometrium (RPKM 1.5) and 19 other tissues See more
Orthologs
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Genomic context

See SLC45A1 in Genome Data Viewer
Location:
1p36.23
Exon count:
9
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (8318114..8344165)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (7849807..7876669)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (8378174..8404225)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903835 Neighboring gene Sharpr-MPRA regulatory region 9077 Neighboring gene RNA, U6 small nuclear 991, pseudogene Neighboring gene Sharpr-MPRA regulatory region 599 Neighboring gene arginine-glutamic acid dipeptide repeats Neighboring gene RERE antisense RNA 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Phenotypes

Associated conditions

Description Tests
Intellectual developmental disorder with neuropsychiatric features
MedGen: C4479636 OMIM: 617532 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
A genome-wide scan for breast cancer risk haplotypes among African American women.
EBI GWAS Catalog
Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium.
EBI GWAS Catalog
Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ26758, KIAA0458

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables galactose:proton symporter activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables glucose:proton symporter activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables glucose:proton symporter activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables sucrose:proton symporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
involved_in galactose transmembrane transport ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in glucose transmembrane transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in sucrose transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
proton-associated sugar transporter A
Names
H+/sugar symporter
deleted in neuroblastoma 5 protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_034025.1 RefSeqGene

    Range
    5030..31081
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001080397.3NP_001073866.3  proton-associated sugar transporter A isoform 2

    Status: REVIEWED

    Source sequence(s)
    AL356072, BU527858, BY798065, HY013542, HY328991
    Consensus CDS
    CCDS30577.2
    UniProtKB/TrEMBL
    A0A2H2EQP0
    Related
    ENSP00000418096.3, ENST00000471889.7
    Conserved Domains (1) summary
    cd17313
    Location:87722
    MFS_SLC45_SUC; Solute carrier family 45 and similar sugar transporters of the Major Facilitator Superfamily of transporters
  2. NM_001379614.1NP_001366543.1  proton-associated sugar transporter A isoform 1

    Status: REVIEWED

    Source sequence(s)
    AL356072
    Conserved Domains (1) summary
    cl28910
    Location:87730
    MFS; Major Facilitator Superfamily
  3. NM_001379615.1NP_001366544.1  proton-associated sugar transporter A isoform 3

    Status: REVIEWED

    Source sequence(s)
    AL356072
    Conserved Domains (1) summary
    cl28910
    Location:469699
    MFS; Major Facilitator Superfamily
  4. NM_001379616.1NP_001366545.1  proton-associated sugar transporter A isoform 4

    Status: REVIEWED

    Source sequence(s)
    AL356072
    Conserved Domains (1) summary
    cl28910
    Location:87691
    MFS; Major Facilitator Superfamily
  5. NM_001379617.1NP_001366546.1  proton-associated sugar transporter A isoform 5

    Status: REVIEWED

    Source sequence(s)
    AL356072
    Conserved Domains (1) summary
    cl28910
    Location:298528
    MFS; Major Facilitator Superfamily
  6. NM_001379618.1NP_001366547.1  proton-associated sugar transporter A isoform 6

    Status: REVIEWED

    Source sequence(s)
    AL356072
    Related
    ENST00000497660.5
    Conserved Domains (1) summary
    cl28910
    Location:298520
    MFS; Major Facilitator Superfamily

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    8318114..8344165
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047421726.1XP_047277682.1  proton-associated sugar transporter A isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    7849807..7876669
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)